Q05397
Gene name |
PTK2 |
Protein name |
Focal adhesion kinase 1 |
Names |
FADK 1, Focal adhesion kinase-related nonkinase, FRNK, Protein phosphatase 1 regulatory subunit 71, PPP1R71, Protein-tyrosine kinase 2, p125FAK, pp125FAK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5747 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER (PTHR46221) |

Descriptions
Focal adhesion kinase (FAK) is a non-receptor kinase that controls the migration, proliferation, and survival of cells. It contains an N-terminal FERM domain, a kinase domain, and a C-terminal focal adhesion-targeting (FAT) domain. LRRK2 directly binds to and phosphorylates the threonine 474 of FAK, thereby inhibiting the phosphorylation of FAK at tyrosine 397 residue, which is a marker of its activation. The T474 phosphorylation induces a conformational change, enabling its N-terminal FERM domain to autoinhibit Y397 phosphorylation. Deletion of the FERM domain increases Y397 phosphorylation.
Autoinhibitory domains (AIDs)
Target domain |
415-684 (Catalytic domain of the Protein Tyrosine Kinase, Focal Adhesion Kinase) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
563-587 (Activation loop from InterPro)
Target domain |
422-680 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
Autoinhibited structure

Activated structure

40 structures for Q05397
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1K04 | X-ray | 195 A | A | 891-1052 | PDB |
1K05 | X-ray | 290 A | A/B/C | 891-1052 | PDB |
1MP8 | X-ray | 160 A | A | 411-686 | PDB |
1OW6 | X-ray | 235 A | A/B/C | 892-1052 | PDB |
1OW7 | X-ray | 260 A | A/B/C | 892-1052 | PDB |
1OW8 | X-ray | 285 A | A/B/C | 892-1052 | PDB |
2ETM | X-ray | 230 A | A/B | 411-689 | PDB |
2IJM | X-ray | 219 A | A/B | 411-689 | PDB |
3B71 | X-ray | 282 A | A/B/C | 891-1052 | PDB |
3BZ3 | X-ray | 220 A | A | 414-689 | PDB |
3PXK | X-ray | 179 A | A/B | 411-689 | PDB |
3S9O | X-ray | 260 A | A/B/C | 891-1052 | PDB |
4EBV | X-ray | 167 A | A | 411-686 | PDB |
4EBW | X-ray | 265 A | A | 411-686 | PDB |
4GU6 | X-ray | 195 A | A/B | 411-689 | PDB |
4GU9 | X-ray | 240 A | A/B | 410-686 | PDB |
4I4E | X-ray | 155 A | A | 411-686 | PDB |
4I4F | X-ray | 175 A | A | 411-686 | PDB |
4K8A | X-ray | 291 A | A/B | 410-686 | PDB |
4K9Y | X-ray | 200 A | A | 410-686 | PDB |
4KAB | X-ray | 271 A | A/B | 410-686 | PDB |
4KAO | X-ray | 239 A | A/B | 410-689 | PDB |
4NY0 | X-ray | 280 A | A/B/C/D | 31-405 | PDB |
4Q9S | X-ray | 207 A | A | 411-686 | PDB |
6I8Z | X-ray | 199 A | A | 411-689 | PDB |
6LES | X-ray | 200 A | A/B/X/Y | 805-832 | PDB |
6PW8 | X-ray | 195 A | A | 922-1047 | PDB |
6YOJ | X-ray | 136 A | A | 411-689 | PDB |
6YQ1 | X-ray | 178 A | A/B/C/D | 411-689 | PDB |
6YR9 | X-ray | 193 A | A/B/C/D | 411-689 | PDB |
6YT6 | X-ray | 154 A | A/B | 411-689 | PDB |
6YVS | X-ray | 181 A | A/B/C/D | 411-689 | PDB |
6YVY | X-ray | 192 A | A/B/C/D | 411-689 | PDB |
6YXV | X-ray | 230 A | A/B/C/D | 411-689 | PDB |
7PI4 | X-ray | 224 A | DDD | 415-687 | PDB |
7W7Z | X-ray | 215 A | A | 892-1052 | PDB |
7W8B | X-ray | 209 A | A | 892-1052 | PDB |
7W8I | X-ray | 194 A | A | 892-1052 | PDB |
7W9U | X-ray | 216 A | A/B/C/D | 892-1052 | PDB |
AF-Q05397-F1 | Predicted | AlphaFoldDB |
590 variants for Q05397
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs775490424 COSM1455191 CA4896107 |
2 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs765127207 CA4896106 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
rs759346189 CA4896105 |
4 | A>D | No |
ClinGen ExAC |
|
rs886465125 CA372738943 |
5 | Y>* | No |
ClinGen Ensembl |
|
CA4896104 rs773588358 |
5 | Y>F | No |
ClinGen ExAC |
|
rs748382315 CA4896102 |
7 | D>E | No |
ClinGen ExAC gnomAD |
|
CA4896103 rs772377748 |
7 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1600928471 CA372738922 |
9 | N>H | No |
ClinGen Ensembl |
|
CA4896101 rs774353002 |
9 | N>S | No |
ClinGen ExAC gnomAD |
|
rs191376716 CA4896099 |
14 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs191376716 CA4896100 |
14 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA372738881 rs1466770413 |
15 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA372738877 rs1600927451 |
15 | N>K | No |
ClinGen Ensembl |
|
rs879079754 CA187277845 |
16 | S>L | No |
ClinGen Ensembl |
|
CA4896097 rs746193983 |
17 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746193983 CA4896096 |
17 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1363478606 CA372738864 |
18 | T>A | No |
ClinGen gnomAD |
|
CA4896095 rs372781106 |
18 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
rs1234636553 CA372738858 |
19 | K>E | No |
ClinGen TOPMed |
|
CA4896094 rs756906833 |
20 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368816484 CA4896093 |
21 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777211634 CA4896092 |
22 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4896091 rs757857508 |
24 | T>A | No |
ClinGen ExAC gnomAD |
|
CA4896090 rs752695283 |
25 | G>V | No |
ClinGen ExAC |
|
rs187615056 CA4896089 |
26 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759434032 CA4896088 |
28 | R>G | No |
ClinGen ExAC gnomAD |
|
CA4896085 rs762007942 |
30 | P>H | No |
ClinGen ExAC gnomAD |
|
CA4896086 rs766185287 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1252621560 CA372738765 |
34 | E>* | No |
ClinGen gnomAD |
|
CA4896080 rs776011186 |
46 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM454100 rs374554975 CA4896079 |
47 | S>N | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs994914693 COSM241299 CA187277844 |
48 | E>G | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA4896078 rs746349246 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372738622 rs1201350980 |
54 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA372738605 rs1460434678 |
56 | I>M | No |
ClinGen gnomAD |
|
CA372738602 rs1193782301 |
57 | R>K | No |
ClinGen gnomAD |
|
rs1198241245 CA372738553 |
64 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA4896075 rs752213271 |
65 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778633667 CA4896041 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
rs141575134 CA4896040 |
74 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs749253117 COSM749883 CA4896039 |
79 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1156453284 CA372738026 |
81 | A>G | No |
ClinGen gnomAD |
|
CA4896037 rs755894891 |
81 | A>S | No |
ClinGen ExAC gnomAD |
|
CA372738013 rs1163231407 |
83 | Y>C | No |
ClinGen TOPMed |
|
rs750277139 CA4896036 |
85 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA187276615 rs906839481 |
85 | F>V | No |
ClinGen TOPMed |
|
COSM1096739 CA372737994 rs1179929431 |
86 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs567773573 CA4896035 |
86 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs567773573 CA4896034 |
86 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA187276613 rs56051231 |
89 | H>P | No |
ClinGen Ensembl |
|
rs55903738 CA187276612 |
89 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs879216797 CA187276610 |
91 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1281085185 CA372737942 |
94 | E>D | No |
ClinGen gnomAD |
|
rs759551846 CA4896031 |
95 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4896030 rs777025498 |
95 | V>G | No |
ClinGen ExAC gnomAD |
|
CA4896028 rs761055281 |
96 | H>R | No |
ClinGen ExAC gnomAD |
|
rs766867826 CA4896029 |
96 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA4896026 rs772561132 |
100 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1314361592 CA372737903 |
101 | D>N | No |
ClinGen gnomAD |
|
CA372737890 rs1360701056 |
102 | M>I | No |
ClinGen gnomAD |
|
CA4896025 rs747807231 |
102 | M>V | No |
ClinGen ExAC gnomAD |
|
COSM294733 rs200017517 CA4896024 |
104 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA372737868 rs1385276601 |
106 | S>G | No |
ClinGen gnomAD |
|
CA187276608 rs868400822 |
107 | V>L | No |
ClinGen Ensembl |
|
CA372737830 rs748770277 |
111 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs748770277 CA4896022 |
111 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs779404026 CA4896021 |
113 | L>F | No |
ClinGen ExAC gnomAD |
|
CA372737817 rs1228582279 |
113 | L>H | No |
ClinGen TOPMed |
|
rs756130164 CA4896020 |
114 | A>V | No |
ClinGen ExAC gnomAD |
|
CA4896019 rs72683792 |
115 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA372737795 rs1214040757 |
117 | P>S | No |
ClinGen gnomAD |
|
CA187276606 rs71514694 |
118 | E>K | No |
ClinGen Ensembl |
|
rs1287065872 CA372737781 |
119 | E>* | No |
ClinGen gnomAD |
|
rs755415308 CA4896003 |
122 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1318342271 CA372738324 |
126 | I>V | No |
ClinGen gnomAD |
|
CA372738315 rs1402739520 |
127 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA372738314 rs1284764718 |
127 | R>H | No |
ClinGen gnomAD |
|
rs1344432751 CA372738300 |
129 | L>S | No |
ClinGen gnomAD |
|
rs1226596183 CA372738289 |
131 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA372738288 rs1226596183 |
131 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs1189962612 CA372738265 |
134 | L>P | No |
ClinGen TOPMed |
|
CA372738247 rs1438045313 |
136 | Q>H | No |
ClinGen gnomAD |
|
rs775128110 CA4896001 |
136 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369173327 CA4896000 |
138 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA187274856 rs878943368 |
138 | T>I | No |
ClinGen TOPMed |
|
rs369173327 CA372738228 |
138 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1479246001 CA372738170 |
142 | P>S | No |
ClinGen TOPMed |
|
rs1169038086 CA372738129 |
145 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA187274855 COSM1455188 rs765564003 COSM1455182 |
147 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA4895999 rs780931637 |
149 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1429836651 CA372737366 |
153 | S>N | No |
ClinGen TOPMed |
|
CA187272810 rs878966709 |
154 | D>N | No |
ClinGen TOPMed |
|
CA372737324 rs1440362392 |
158 | E>D | No |
ClinGen gnomAD |
|
rs374542141 CA4895977 |
159 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1477797368 CA372737298 |
162 | Q>R | No |
ClinGen TOPMed |
|
CA187272809 rs1033508203 |
164 | D>N | No |
ClinGen Ensembl |
|
rs1201671571 CA372737258 |
168 | A>T | No |
ClinGen gnomAD |
|
CA187272807 rs896058983 |
170 | K>N | No |
ClinGen TOPMed |
|
CA187272806 rs369459709 |
174 | L>V | No |
ClinGen ESP TOPMed |
|
rs754644712 CA4895939 |
181 | W>G | No |
ClinGen ExAC gnomAD |
|
CA4895938 rs200388173 |
184 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1400861495 CA372737136 |
184 | R>W | No |
ClinGen gnomAD |
|
CA4895936 rs760130442 |
185 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895935 rs573313509 |
186 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1460350833 CA372737121 |
187 | A>T | No |
ClinGen gnomAD |
|
rs41315637 CA187272785 |
192 | S>P | No |
ClinGen Ensembl |
|
CA372737072 rs1438980002 |
194 | Y>H | No |
ClinGen gnomAD |
|
CA372737044 rs1396796576 |
198 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA4895880 rs749783878 |
199 | K>R | No |
ClinGen ExAC gnomAD |
|
CA372736752 rs1376039206 |
202 | G>S | No |
ClinGen TOPMed |
|
CA372736728 rs770081426 |
205 | R>L | No |
ClinGen ExAC gnomAD |
|
COSM1096731 rs770081426 CA4895878 |
205 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA4895877 rs372460267 |
209 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
CA4895876 rs183169699 |
209 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1276016435 CA372736699 |
210 | S>G | No |
ClinGen gnomAD |
|
rs1399051217 CA372736676 |
213 | D>A | No |
ClinGen gnomAD |
|
CA187270994 rs776321840 |
213 | D>E | No |
ClinGen Ensembl |
|
CA372736664 rs1340790344 |
215 | V>I | No |
ClinGen gnomAD |
|
CA372736634 rs774549861 |
217 | A>S | No |
ClinGen ExAC gnomAD |
|
rs774549861 CA4895865 |
217 | A>T | No |
ClinGen ExAC gnomAD |
|
CA372736615 rs1431608233 |
220 | L>V | No |
ClinGen gnomAD |
|
CA4895864 rs764157561 |
222 | K>R | No |
ClinGen ExAC gnomAD |
|
rs367712418 CA187269628 |
227 | T>P | No |
ClinGen ESP TOPMed |
|
rs1197932692 CA372736532 |
232 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA4895860 rs746207802 |
232 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895861 rs746207802 |
232 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1197932692 CA372736530 |
232 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1597053865 CA372736528 |
233 | N>H | No |
ClinGen Ensembl |
|
rs1184087334 CA372736504 |
236 | R>T | No |
ClinGen TOPMed |
|
rs746631635 CA4895857 |
240 | I>T | No |
ClinGen ExAC gnomAD |
|
rs748110258 CA4895854 |
247 | L>V | No |
ClinGen ExAC gnomAD |
|
rs374480150 CA4895852 |
254 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA4895851 rs143848575 |
259 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
CA4895850 rs766073665 |
259 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1162584235 CA372736289 |
265 | S>N | No |
ClinGen gnomAD |
|
CA187269580 rs149643582 |
266 | W>* | No |
ClinGen ESP |
|
rs374359484 CA4895833 |
267 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779901080 CA4895832 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1487082018 CA372736233 |
273 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs751799081 CA4895830 |
274 | I>V | No |
ClinGen ExAC gnomAD |
|
CA187269579 rs1021091174 |
275 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs752827540 CA372736195 |
279 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895827 rs752827540 |
279 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1321512976 CA372736169 |
283 | L>Q | No |
ClinGen gnomAD |
|
rs760157730 CA4895825 |
284 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs878885002 CA187269577 |
287 | G>S | No |
ClinGen Ensembl |
|
rs766781906 CA4895823 |
289 | N>S | No |
ClinGen ExAC gnomAD |
|
rs879104242 CA186589823 |
295 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA4895803 rs750875504 |
295 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA186589821 rs370107363 |
296 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
CA4895802 rs138310449 |
297 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372333675 rs1359001216 |
298 | Q>E | No |
ClinGen TOPMed |
|
CA186589819 rs969827390 |
298 | Q>R | No |
ClinGen TOPMed |
|
CA4895801 rs761560501 |
300 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372333655 rs1196636072 |
301 | T>A | No |
ClinGen gnomAD |
|
CA372333651 rs1482317412 |
301 | T>I | No |
ClinGen TOPMed |
|
CA372333637 rs1334223363 |
303 | Q>H | No |
ClinGen gnomAD |
|
rs1341784630 CA372333639 |
303 | Q>R | No |
ClinGen gnomAD |
|
CA4895799 rs768231879 |
306 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1472818823 CA372333595 |
309 | D>A | No |
ClinGen TOPMed |
|
rs1183103173 CA372333589 |
310 | K>E | No |
ClinGen TOPMed |
|
rs1566709424 CA372333579 |
311 | D>G | No |
ClinGen Ensembl |
|
CA372333582 rs1443621256 |
311 | D>H | No |
ClinGen TOPMed |
|
CA4895798 rs762326583 |
312 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1022860198 COSM223310 CA186589805 |
314 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA372333546 rs1305545982 |
316 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA4895797 rs775030051 |
321 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs878878686 CA186589800 |
321 | A>V | No |
ClinGen Ensembl |
|
rs745795776 CA4895795 |
323 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748385105 CA4895792 |
324 | P>L | No |
ClinGen ExAC gnomAD |
|
CA4895793 rs770648069 |
324 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1428245510 CA372333492 |
325 | E>K | No |
ClinGen gnomAD |
|
rs1187137215 CA372333303 |
326 | P>L | No |
ClinGen gnomAD |
|
CA186588706 rs976626614 |
329 | V>M | No |
ClinGen Ensembl |
|
rs541855089 CA4895772 |
330 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895771 rs373258896 |
331 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA372333256 rs1487993702 |
331 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA186588694 rs147093212 |
332 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs1171090967 CA372333234 |
334 | L>V | No |
ClinGen TOPMed |
|
rs773028711 CA4895770 |
335 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369812412 CA4895769 |
336 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1354010603 COSM749889 CA372333195 |
337 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA4895768 rs375118877 |
338 | E>G | No |
ClinGen ESP ExAC |
|
rs780283460 CA4895767 |
339 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895762 rs751915058 |
351 | V>G | No |
ClinGen ExAC gnomAD |
|
rs757803422 CA4895763 |
351 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372332985 rs1468146310 |
354 | T>N | No |
ClinGen gnomAD |
|
rs878949064 CA186588652 |
355 | S>L | No |
ClinGen TOPMed |
|
rs1343946771 CA372332959 |
356 | Q>R | No |
ClinGen TOPMed |
|
rs1475725139 CA372332908 |
360 | I>V | No |
ClinGen gnomAD |
|
CA372332890 rs1420363106 |
361 | R>T | No |
ClinGen gnomAD |
|
rs750315960 CA4895733 |
365 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895732 rs767236561 |
366 | G>D | No |
ClinGen ExAC gnomAD |
|
CA4895731 rs774254542 |
367 | E>D | No |
ClinGen ExAC gnomAD |
|
CA186585492 rs771095551 |
368 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs996717242 COSM1241631 CA186585495 |
368 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs763101680 CA186585486 |
369 | A>T | No |
ClinGen gnomAD |
|
rs1566505535 CA372332407 |
370 | L>V | No |
ClinGen Ensembl |
|
CA372332401 rs1383366541 |
371 | P>S | No |
ClinGen Ensembl |
|
rs868799354 CA186585479 |
372 | S>L | No |
ClinGen Ensembl |
|
CA372332390 rs1412839758 |
373 | I>V | No |
ClinGen gnomAD |
|
rs776940166 CA4895709 |
377 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895708 rs766394705 |
378 | N>K | No |
ClinGen ExAC gnomAD |
|
CA4895707 rs538944133 |
379 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA186583856 rs879092898 |
380 | E>K | No |
ClinGen gnomAD |
|
CA4895705 rs772684225 |
381 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895704 rs146526688 |
383 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
CA372331797 rs140961245 |
384 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140961245 CA4895703 |
384 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs879163959 CA186583815 |
385 | R>Q | No |
ClinGen gnomAD |
|
rs1042391332 CA186583829 |
385 | R>W | No |
ClinGen gnomAD |
|
rs779715141 CA4895700 |
388 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895698 rs745429526 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372327626 rs1420245562 |
399 | E>K | No |
ClinGen gnomAD |
|
CA186569229 rs186394279 |
400 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA186569225 rs759201511 |
406 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1469646201 CA372327511 |
406 | T>P | No |
ClinGen gnomAD |
|
CA372327491 rs1437923644 |
407 | Y>S | No |
ClinGen gnomAD |
|
CA372327480 rs1274444744 |
408 | T>N | No |
ClinGen gnomAD |
|
CA372327469 rs1231405103 |
409 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA186569219 rs888527537 |
409 | M>V | No |
ClinGen Ensembl |
|
rs1212172794 CA372326637 |
413 | R>G | No |
ClinGen gnomAD |
|
CA372326633 rs1446876848 |
413 | R>K | No |
ClinGen TOPMed |
|
rs201222140 CA186567314 |
414 | D>N | No |
ClinGen Ensembl |
|
rs1162192882 CA372326534 |
420 | E>K | No |
ClinGen TOPMed |
|
rs1313094981 CA372326522 |
421 | R>G | No |
ClinGen gnomAD |
|
CA372326509 rs1334497061 |
422 | I>V | No |
ClinGen gnomAD |
|
rs1274030744 CA372326484 |
423 | E>D | No |
ClinGen gnomAD |
|
rs1247173286 COSM1455161 CA372326458 |
426 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA4895562 rs200186976 |
426 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1394828889 CA372326451 |
427 | C>R | No |
ClinGen Ensembl |
|
rs761954797 CA4895561 |
428 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1423442775 CA372326332 |
435 | D>G | No |
ClinGen TOPMed |
|
rs1394847273 CA372326314 |
437 | H>R | No |
ClinGen gnomAD |
|
rs749425703 CA4895558 |
440 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895557 rs780267021 |
443 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781693451 CA4895535 |
446 | N>S | No |
ClinGen ExAC gnomAD |
|
CA4895534 rs771308693 |
448 | A>V | No |
ClinGen ExAC gnomAD |
|
rs778100779 CA4895532 |
450 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150568425 CA4895530 |
451 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4895529 rs778407602 |
453 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895527 rs753752073 |
458 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1227047503 CA372325226 |
459 | C>G | No |
ClinGen TOPMed |
|
rs755989473 CA4895525 |
461 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1174728451 CA372325198 |
461 | S>T | No |
ClinGen gnomAD |
|
rs767353964 CA4895523 |
463 | S>G | No |
ClinGen ExAC gnomAD |
|
CA186560882 rs369322976 |
463 | S>N | No |
ClinGen ESP TOPMed |
|
rs143634132 CA4895522 |
464 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4895521 rs775802354 |
468 | F>C | No |
ClinGen ExAC gnomAD |
|
rs937213601 CA186557110 |
475 | M>V | No |
ClinGen TOPMed |
|
COSM1096704 CA4895462 rs753953419 |
476 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA4895460 rs182075508 |
476 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4895461 rs182075508 |
476 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs753953419 CA4895463 |
476 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372324211 rs750472122 |
481 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1278231078 CA372324207 |
481 | P>R | No |
ClinGen TOPMed |
|
rs750472122 CA4895459 |
481 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895457 rs762301600 |
482 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs562435589 CA4895455 |
483 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs562435589 CA4895456 |
483 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA186557063 rs974857571 |
487 | I>M | No |
ClinGen TOPMed |
|
rs745417588 CA4895451 |
491 | T>I | No |
ClinGen ExAC TOPMed |
|
rs769453941 CA4895452 |
491 | T>S | No |
ClinGen ExAC gnomAD |
|
CA372324037 rs1315112229 |
493 | N>S | No |
ClinGen TOPMed |
|
CA372324015 rs1361201887 |
495 | V>F | No |
ClinGen TOPMed |
|
CA4895448 rs190197836 |
496 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA186557044 rs536913046 |
497 | I>L | No |
ClinGen Ensembl |
|
CA372323978 rs1219754498 |
498 | I>T | No |
ClinGen TOPMed |
|
rs199594538 CA186557041 |
501 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1303285536 CA372323892 |
503 | T>A | No |
ClinGen gnomAD |
|
CA4895446 rs777640932 |
503 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1158008220 CA372323878 |
504 | L>F | No |
ClinGen gnomAD |
|
rs754121232 CA4895444 |
506 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1390972567 CA372323596 |
508 | R>G | No |
ClinGen gnomAD |
|
CA372323586 rs1437491021 |
509 | S>A | No |
ClinGen TOPMed |
|
CA372323552 rs1593305125 |
511 | L>F | No |
ClinGen Ensembl |
|
CA186555582 rs910105052 |
513 | V>I | No |
ClinGen TOPMed |
|
CA372323468 rs1246779814 |
515 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs878961416 CA186555571 |
516 | Y>C | No |
ClinGen TOPMed |
|
CA4895393 rs766018197 |
517 | S>R | No |
ClinGen ExAC gnomAD |
|
CA4895394 rs146511319 |
517 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372323399 rs1482020051 |
519 | D>Y | No |
ClinGen gnomAD |
|
CA372323337 rs1450500637 |
523 | L>F | No |
ClinGen gnomAD |
|
rs772759882 CA4895391 |
524 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1268306062 CA372323257 |
528 | Y>C | No |
ClinGen gnomAD |
|
CA4895388 rs774027962 |
533 | A>T | No |
ClinGen ExAC |
|
rs746116314 CA4895386 |
540 | K>R | No |
ClinGen ExAC gnomAD |
|
CA186554476 rs149781812 |
547 | I>V | No |
ClinGen 1000Genomes |
|
rs748823989 CA186554461 |
549 | A>T | No |
ClinGen gnomAD |
|
CA372322714 rs1224702542 |
550 | R>Q | No |
ClinGen TOPMed |
|
rs1199666239 COSM3834134 CA372322717 |
550 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs775252275 CA4895367 |
555 | S>F | No |
ClinGen ExAC |
|
rs747186955 CA372322589 |
569 | R>P | No |
ClinGen ExAC TOPMed |
|
rs747186955 CA4895365 |
569 | R>Q | No |
ClinGen ExAC TOPMed |
|
rs1288479656 CA372322586 |
570 | Y>H | No |
ClinGen gnomAD |
|
rs375296546 CA372322204 |
573 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375296546 CA4895364 |
573 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4895349 rs146709950 |
586 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA186591793 rs867074714 |
590 | A>S | No |
ClinGen Ensembl |
|
CA186591791 rs1032760709 |
594 | I>V | No |
ClinGen gnomAD |
|
rs1433340978 CA372331449 |
597 | R>Q | No |
ClinGen gnomAD |
|
rs1338390440 CA372331444 |
598 | R>C | No |
ClinGen TOPMed |
|
CA186591789 rs111757839 |
600 | T>A | No |
ClinGen Ensembl |
|
CA372331426 rs1388184593 |
601 | S>P | No |
ClinGen gnomAD |
|
rs556823398 CA4895348 |
603 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4895347 rs775267050 |
605 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895345 rs760830207 |
608 | F>L | No |
ClinGen ExAC gnomAD |
|
CA372330407 rs1245760109 |
612 | M>T | No |
ClinGen gnomAD |
|
rs1198955255 CA372330397 |
613 | W>* | No |
ClinGen gnomAD |
|
CA4895330 rs763526111 |
615 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1203576300 CA372330349 |
620 | V>L | No |
ClinGen gnomAD |
|
CA186590570 rs879153139 |
629 | N>D | No |
ClinGen Ensembl |
|
rs758344271 CA372330272 |
631 | V>I | No |
ClinGen ExAC gnomAD |
|
CA4895329 rs758344271 |
631 | V>L | No |
ClinGen ExAC gnomAD |
|
rs371607821 CA4895326 COSM3698851 |
633 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA4895324 rs767843214 |
634 | R>L | No |
ClinGen ExAC |
|
rs1306141002 CA372330091 |
648 | P>L | No |
ClinGen gnomAD |
|
rs990488105 CA186590553 |
650 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs990488105 CA372330074 |
650 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs774579534 CA4895322 |
651 | L>F | No |
ClinGen ExAC gnomAD |
|
CA372330054 rs1565333274 |
652 | Y>H | No |
ClinGen Ensembl |
|
CA4895320 rs749841325 |
653 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372330006 rs1478740608 |
655 | M>T | No |
ClinGen gnomAD |
|
CA372329989 rs1249036599 |
656 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs982040650 CA186590537 |
661 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs1207074429 CA372329901 |
662 | D>G | No |
ClinGen gnomAD |
|
rs878970943 CA372329876 |
664 | S>N | No |
ClinGen TOPMed |
|
CA372329880 rs1278214915 |
664 | S>R | No |
ClinGen gnomAD |
|
CA186590532 rs878970943 |
664 | S>T | No |
ClinGen TOPMed |
|
CA372329863 rs1219994861 |
665 | R>T | No |
ClinGen gnomAD |
|
CA4895317 rs769106710 |
668 | R>K | No |
ClinGen ExAC gnomAD |
|
CA186590507 rs973684789 |
668 | R>S | No |
ClinGen Ensembl |
|
rs973684789 CA372329837 |
668 | R>S | No |
ClinGen Ensembl |
|
CA4895316 rs781404930 |
670 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1351105118 CA372329800 |
674 | A>T | No |
ClinGen gnomAD |
|
rs1299753944 CA372329796 |
674 | A>V | No |
ClinGen gnomAD |
|
CA372329792 rs1445567759 |
675 | Q>P | No |
ClinGen gnomAD |
|
CA4895223 rs749458541 |
678 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1162534407 CA372328186 |
678 | T>I | No |
ClinGen gnomAD |
|
rs889246987 CA186581916 |
679 | I>T | No |
ClinGen TOPMed |
|
rs1029138063 CA186581913 |
681 | E>V | No |
ClinGen TOPMed |
|
CA372328148 rs1230422565 |
682 | E>K | No |
ClinGen TOPMed |
|
rs1295044393 CA372328098 |
684 | K>N | No |
ClinGen TOPMed |
|
CA4895221 rs756149985 |
690 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1011085024 CA186581905 |
690 | R>H | No |
ClinGen TOPMed |
|
rs750474201 CA4895220 |
691 | M>V | No |
ClinGen ExAC gnomAD |
|
rs767962744 CA4895219 |
693 | M>R | No |
ClinGen ExAC gnomAD |
|
CA372327879 rs1242335737 |
695 | S>C | No |
ClinGen gnomAD |
|
rs934380856 CA186581896 |
695 | S>P | No |
ClinGen Ensembl |
|
rs1194703270 CA372327820 |
698 | Q>H | No |
ClinGen gnomAD |
|
rs757773763 CA4895218 |
700 | T>S | No |
ClinGen ExAC gnomAD |
|
CA4895217 rs751872119 |
702 | S>F | No |
ClinGen ExAC gnomAD |
|
CA186581855 rs775241617 |
706 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895214 rs775241617 |
706 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA186581848 rs947056286 |
707 | G>R | No |
ClinGen gnomAD |
|
rs1329374344 CA372327697 |
708 | S>P | No |
ClinGen gnomAD |
|
CA372327677 rs1302594797 |
709 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1405534204 CA372327634 |
712 | P>S | No |
ClinGen gnomAD |
|
CA4895211 rs776268765 |
713 | P>A | No |
ClinGen ExAC gnomAD |
|
CA372325923 rs771970301 |
716 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895189 rs771970301 |
716 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774124653 CA4895187 |
718 | P>L | No |
ClinGen ExAC gnomAD |
|
rs373360191 CA186574512 |
719 | G>R | No |
ClinGen ESP TOPMed |
|
rs1355852451 CA372325891 |
721 | P>R | No |
ClinGen TOPMed |
|
rs1233867372 CA372325880 |
723 | P>A | No |
ClinGen gnomAD |
|
CA4895184 rs781150551 |
723 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1031233329 CA186574479 |
724 | R>K | No |
ClinGen Ensembl |
|
rs1000214168 CA186574457 |
729 | F>Y | No |
ClinGen Ensembl |
|
CA372325832 rs1245206347 |
730 | Y>C | No |
ClinGen TOPMed |
|
rs866834724 CA186574452 |
731 | P>S | No |
ClinGen gnomAD |
|
rs145314554 CA4895179 |
733 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372325813 rs1223191697 |
733 | P>T | No |
ClinGen gnomAD |
|
rs753483548 CA4895176 |
736 | M>V | No |
ClinGen ExAC gnomAD |
|
CA4895175 rs765840716 |
737 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1274348811 CA372325767 |
739 | T>I | No |
ClinGen gnomAD |
|
rs143253214 CA4895174 |
740 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1437094978 CA372325425 |
744 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1033303849 CA186571757 |
745 | S>C | No |
ClinGen TOPMed |
|
rs766952615 CA4895153 |
746 | G>D | No |
ClinGen ExAC gnomAD |
|
CA4895152 rs202194364 |
747 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA372325402 rs1369775449 |
747 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs751455281 CA4895151 |
748 | P>R | No |
ClinGen ExAC gnomAD |
|
CA372325391 rs1591198931 |
748 | P>S | No |
ClinGen Ensembl |
|
rs762853642 CA372325353 |
751 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762853642 CA4895149 |
751 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895148 rs775134788 |
753 | I>F | No |
ClinGen ExAC gnomAD |
|
CA372325332 rs1382321037 |
753 | I>S | No |
ClinGen gnomAD |
|
rs766690067 CA4895147 |
754 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200844973 CA186571718 |
754 | T>P | No |
ClinGen Ensembl |
|
rs760742342 CA4895146 |
755 | A>T | No |
ClinGen ExAC gnomAD |
|
CA372325307 rs1403693308 |
755 | A>V | No |
ClinGen gnomAD |
|
rs1365497745 CA372325303 |
756 | M>V | No |
ClinGen gnomAD |
|
CA372325279 rs1483757610 |
757 | A>V | No |
ClinGen TOPMed |
|
CA4895144 rs139239813 |
760 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773439128 CA4895145 |
760 | I>V | No |
ClinGen ExAC gnomAD |
|
CA372325232 rs1169957667 |
761 | Y>C | No |
ClinGen gnomAD |
|
CA4895142 rs775041249 |
764 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs748698963 CA4895143 |
764 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs748698963 CA372325196 |
764 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1189415779 CA372325177 |
766 | S>T | No |
ClinGen TOPMed |
|
CA186571657 rs1038528814 |
767 | L>F | No |
ClinGen TOPMed |
|
rs749723758 CA4895140 |
770 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895138 rs199840851 |
775 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1392279941 CA372325016 |
778 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1126498 CA186571623 |
778 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1126498 CA4895137 |
778 | P>T | No |
ClinGen ExAC gnomAD |
|
rs756799160 CA4895135 |
780 | E>D | No |
ClinGen ExAC gnomAD |
|
rs764077150 CA4895133 |
781 | I>T | No |
ClinGen ExAC gnomAD |
|
rs751044509 CA4895134 |
781 | I>V | No |
ClinGen ExAC gnomAD |
|
CA4895131 rs752542898 |
782 | A>G | No |
ClinGen ExAC gnomAD |
|
rs141196660 RCV000968138 CA4895132 |
782 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4895130 rs764882462 |
783 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs944677463 CA186571596 |
783 | M>T | No |
ClinGen gnomAD |
|
CA372324986 rs764882462 |
783 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4895128 rs773530696 |
787 | N>D | No |
ClinGen ExAC gnomAD |
|
COSM3951363 rs1332379703 CA372324953 |
787 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA372324949 rs1591189851 |
788 | V>M | No |
ClinGen Ensembl |
|
rs367667977 CA4895127 |
789 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1174376354 CA372324939 |
789 | E>V | No |
ClinGen gnomAD |
|
CA4895104 rs201643847 |
790 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4895105 rs763543656 |
790 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1319065776 CA372324507 |
791 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA4895103 rs185796736 |
791 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4895098 rs55799133 |
795 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1159030784 CA372324475 |
796 | L>M | No |
ClinGen gnomAD |
|
rs370847963 CA372324467 |
797 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4895097 rs370847963 |
797 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1162679761 CA372324460 |
799 | I>V | No |
ClinGen gnomAD |
|
CA372324445 rs1402400218 |
801 | Q>* | No |
ClinGen TOPMed |
|
rs754955242 CA4895094 |
802 | V>M | No |
ClinGen ExAC gnomAD |
|
CA4895093 rs753756674 |
804 | P>A | No |
ClinGen ExAC gnomAD |
|
CA4895092 rs779932988 |
805 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1437214210 CA372324407 |
807 | L>P | No |
ClinGen TOPMed |
|
CA4895091 rs756046730 |
807 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA186570096 rs112993991 |
808 | M>T | No |
ClinGen Ensembl |
|
CA4895090 rs751788258 |
808 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372324383 rs1206283996 |
810 | E>D | No |
ClinGen gnomAD |
|
rs988016005 CA186570095 |
811 | R>C | No |
ClinGen TOPMed |
|
rs764342696 CA4895089 |
811 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762989428 CA4895088 |
812 | L>V | No |
ClinGen ExAC gnomAD |
|
rs765730249 COSM95115 CA4895086 |
814 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA372324359 rs1225367710 |
815 | Q>R | No |
ClinGen gnomAD |
|
CA372324352 rs1591080581 |
816 | Q>P | No |
ClinGen Ensembl |
|
rs776992649 CA4895084 |
817 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs546619591 CA4895081 |
818 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4895083 rs138189604 |
818 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA186570014 rs1040697891 |
821 | E>D | No |
ClinGen TOPMed |
|
rs1315872596 CA372324296 |
821 | E>Q | No |
ClinGen TOPMed |
|
CA372324279 rs1270650346 |
822 | D>G | No |
ClinGen TOPMed |
|
COSM1263333 CA4895079 rs150410292 |
824 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
COSM205380 CA4895078 rs200596356 |
824 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA372324232 rs1165762276 |
825 | W>C | No |
ClinGen TOPMed gnomAD |
|
rs1373172195 CA372324162 |
831 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs1194624468 CA372324137 |
832 | F>Y | No |
ClinGen gnomAD |
|
rs377689571 CA4895061 |
836 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1001847937 CA186558424 |
836 | D>V | No |
ClinGen Ensembl |
|
rs773615646 CA4895060 |
837 | V>M | No |
ClinGen ExAC gnomAD |
|
CA372321582 rs1336959698 |
838 | R>S | No |
ClinGen TOPMed |
|
rs146529989 CA186558397 |
840 | S>P | No |
ClinGen ESP TOPMed |
|
rs767144547 CA4895059 |
841 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA186558355 rs745523477 |
842 | G>D | No |
ClinGen Ensembl |
|
rs1428876959 CA372321509 |
844 | I>S | No |
ClinGen TOPMed |
|
rs1336040836 CA372321498 |
846 | R>G | No |
ClinGen gnomAD |
|
CA4895057 rs773752021 |
848 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA4895056 rs768237414 |
850 | S>G | No |
ClinGen ExAC gnomAD |
|
rs748772540 CA4895055 |
853 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775614348 CA4895054 |
854 | P>L | No |
ClinGen ExAC gnomAD |
|
rs569413912 CA4895041 |
857 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA372332188 rs1443013932 |
860 | I>M | No |
ClinGen gnomAD |
|
CA372332192 rs1589461937 |
860 | I>T | No |
ClinGen Ensembl |
|
CA4895040 rs557669175 |
860 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA186580208 rs878874556 |
863 | P>L | No |
ClinGen Ensembl |
|
CA372332125 rs1184349697 |
865 | G>D | No |
ClinGen gnomAD |
|
rs772922768 CA4895013 |
869 | P>S | No |
ClinGen ExAC gnomAD |
|
CA4895012 rs369938140 |
870 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4895010 rs780152984 |
871 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372331897 rs1315190906 |
872 | P>S | No |
ClinGen gnomAD |
|
rs1589406359 CA372331851 |
875 | K>N | No |
ClinGen Ensembl |
|
CA4895009 rs376658357 |
876 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA186579498 rs376658357 |
876 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372331843 rs1479492547 |
876 | P>T | No |
ClinGen gnomAD |
|
CA372331827 rs1319341637 |
877 | P>L | No |
ClinGen gnomAD |
|
rs1260657059 CA372331821 |
878 | R>C | No |
ClinGen gnomAD |
|
CA372331814 rs1266242346 |
878 | R>H | No |
ClinGen TOPMed |
|
CA372331786 rs1302498220 |
881 | A>T | No |
ClinGen gnomAD |
|
CA186579496 rs201355515 |
881 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
rs778270156 CA4895004 |
882 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778270156 CA4895005 |
882 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372331772 rs140371105 |
883 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4895002 COSM1222481 rs140371105 |
883 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1468189389 CA372331757 |
884 | H>P | No |
ClinGen TOPMed |
|
CA372331721 rs1174295807 |
887 | S>I | No |
ClinGen gnomAD |
|
CA4895001 rs374916423 |
887 | S>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA372331704 rs1378129989 |
889 | A>T | No |
ClinGen gnomAD |
|
CA4894999 rs542542126 COSM3834131 |
889 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA4894998 rs766342761 |
892 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1458778686 CA372331662 |
892 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA372331658 rs1240736886 |
893 | S>N | No |
ClinGen gnomAD |
|
CA372331649 rs879069483 |
894 | P>L | No |
ClinGen gnomAD |
|
CA186579471 rs879069483 |
894 | P>R | No |
ClinGen gnomAD |
|
rs1257077488 CA372331622 |
898 | Y>F | No |
ClinGen TOPMed gnomAD |
|
CA4894997 rs746135848 |
898 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4894996 rs773045656 |
899 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs575152000 CA4894993 |
900 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA4894992 rs553687076 |
903 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA186575382 rs17852610 |
905 | Q>P | No |
ClinGen Ensembl |
|
rs1206019632 CA372330578 |
907 | Q>R | No |
ClinGen TOPMed |
|
rs1488513998 CA372330569 |
908 | E>A | No |
ClinGen gnomAD |
|
CA186575379 rs1009418037 |
909 | I>V | No |
ClinGen Ensembl |
|
CA4894939 rs745452359 |
912 | P>A | No |
ClinGen ExAC gnomAD |
|
rs878943668 CA186575370 |
912 | P>R | No |
ClinGen gnomAD |
|
rs757236528 CA4894937 |
913 | P>R | No |
ClinGen ExAC gnomAD |
|
CA186575362 rs1053659884 |
916 | N>H | No |
ClinGen Ensembl |
|
CA4894936 rs146729199 |
916 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372330523 rs146729199 |
916 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1472886111 CA372330515 |
917 | L>R | No |
ClinGen TOPMed |
|
rs757750103 CA4894932 |
919 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA4894933 rs374415488 |
919 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760973444 CA186575329 |
920 | S>L | No |
ClinGen ExAC gnomAD |
|
rs760973444 CA4894931 |
920 | S>W | No |
ClinGen ExAC gnomAD |
|
rs1165640775 CA372330473 |
924 | V>M | No |
ClinGen gnomAD |
|
rs1421436539 CA372330455 |
926 | E>D | No |
ClinGen gnomAD |
|
CA4894926 rs149065728 |
929 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs908779397 CA186575295 |
933 | K>I | No |
ClinGen Ensembl |
|
CA372330167 rs1197013420 |
934 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs745501327 CA4894922 |
937 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4894921 rs61733047 |
940 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4894920 rs370304120 |
941 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372330049 rs1256814224 |
942 | I>T | No |
ClinGen gnomAD |
|
CA372330033 rs1319129196 |
943 | Q>R | No |
ClinGen gnomAD |
|
rs965178568 CA186575224 |
949 | E>D | No |
ClinGen Ensembl |
|
CA186575218 rs775660089 |
952 | P>H | No |
ClinGen Ensembl |
|
CA186575190 rs878880329 |
953 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs1019348642 CA186575212 |
953 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA186572781 rs878953671 |
958 | G>D | No |
ClinGen Ensembl |
|
CA372329748 rs1465438686 |
958 | G>S | No |
ClinGen gnomAD |
|
CA372329734 rs1378002074 |
960 | A>T | No |
ClinGen gnomAD |
|
rs1177884464 CA372329717 |
963 | T>A | No |
ClinGen gnomAD |
|
rs771958783 CA4894899 |
963 | T>I | No |
ClinGen ExAC gnomAD |
|
rs778889175 CA372329684 |
968 | V>E | No |
ClinGen ExAC gnomAD |
|
CA4894897 rs778889175 |
968 | V>G | No |
ClinGen ExAC gnomAD |
|
CA372329676 rs1220476492 |
969 | D>E | No |
ClinGen TOPMed |
|
CA372329659 rs1256274797 |
972 | I>V | No |
ClinGen TOPMed |
|
rs139442064 CA4894894 |
973 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4894893 rs182400745 |
973 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
rs1198818854 CA585330292 |
973 | P>L | No |
ClinGen gnomAD |
|
CA4894892 rs751652904 |
974 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1588900415 CA372329646 |
974 | L>P | No |
ClinGen Ensembl |
|
rs758872638 CA4894890 |
976 | P>Q | No |
ClinGen ExAC gnomAD |
|
CA372329636 rs758872638 |
976 | P>R | No |
ClinGen ExAC gnomAD |
|
CA372329611 rs1588899130 |
980 | H>P | No |
ClinGen Ensembl |
|
rs942291704 CA186572720 |
980 | H>Q | No |
ClinGen gnomAD |
|
rs878926321 CA186572714 |
981 | R>* | No |
ClinGen gnomAD |
|
CA4894889 rs753234670 |
981 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs773927621 COSM99109 CA4894855 |
983 | I>T | lung stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1304767919 CA372328674 |
987 | Q>* | No |
ClinGen gnomAD |
|
CA372328661 rs1194653703 |
988 | K>E | No |
ClinGen TOPMed |
|
rs1425011611 CA372328648 |
988 | K>N | No |
ClinGen gnomAD |
|
CA372328512 rs1386740836 |
999 | N>D | No |
ClinGen TOPMed |
|
rs527481094 CA4894851 |
999 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4894850 rs745602303 |
1002 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372328435 rs1426884297 |
1004 | A>G | No |
ClinGen gnomAD |
|
rs914428928 CA186569104 |
1004 | A>S | No |
ClinGen Ensembl |
|
CA4894847 rs748295072 |
1007 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1563724872 CA372328367 |
1009 | M>L | No |
ClinGen Ensembl |
|
rs778949241 CA4894846 |
1009 | M>T | No |
ClinGen ExAC gnomAD |
|
CA372328361 rs1588592787 |
1010 | T>P | No |
ClinGen Ensembl |
|
rs990008323 CA186569088 |
1011 | S>N | No |
ClinGen gnomAD |
|
rs1234449412 CA372328333 |
1014 | Q>E | No |
ClinGen gnomAD |
|
CA372328306 rs1187668800 |
1017 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs972143590 CA186569073 |
1019 | Q>K | No |
ClinGen TOPMed |
|
CA4894843 rs780383970 |
1026 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372328232 rs1296372669 |
1028 | A>V | No |
ClinGen TOPMed |
|
CA4894839 rs761550309 |
1030 | D>G | No |
ClinGen ExAC gnomAD |
|
CA186569048 rs1019144207 |
1031 | A>T | No |
ClinGen TOPMed |
|
rs1326583345 CA372328167 |
1035 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA4894838 rs751168363 |
1036 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA372328112 rs1251264818 |
1038 | I>T | No |
ClinGen TOPMed |
|
CA4894837 rs763671069 |
1039 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1462015214 CA372328059 |
1041 | A>T | No |
ClinGen TOPMed |
|
CA372328048 rs1428933882 |
1041 | A>V | No |
ClinGen gnomAD |
|
rs762515280 CA372328013 |
1043 | L>P | No |
ClinGen ExAC gnomAD |
|
rs762515280 CA4894836 |
1043 | L>R | No |
ClinGen ExAC gnomAD |
|
CA4894834 rs545275720 |
1046 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1241735984 CA372327929 |
1047 | G>R | No |
ClinGen TOPMed |
|
rs759379411 CA4894833 |
1048 | Q>R | No |
ClinGen ExAC gnomAD |
|
COSM205373 rs746222859 CA4894832 |
1049 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA372327884 rs746222859 |
1049 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs17852609 CA186569027 |
1051 | P>R | No |
ClinGen TOPMed |
|
rs1168178149 CA372327835 |
1052 | H>Y | No |
ClinGen TOPMed |
1 associated diseases with Q05397
Without disease ID
11 regional properties for Q05397
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | FERM domain | 35 - 355 | IPR000299 |
domain | Protein kinase domain | 422 - 680 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 422 - 676 | IPR001245 |
domain | Focal adhesion kinase, targeting (FAT) domain | 914 - 1045 | IPR005189 |
active_site | Tyrosine-protein kinase, active site | 542 - 554 | IPR008266 |
binding_site | Protein kinase, ATP binding site | 428 - 454 | IPR017441 |
domain | FERM central domain | 135 - 250 | IPR019748 |
domain | Band 4.1 domain | 31 - 258 | IPR019749 |
domain | Tyrosine-protein kinase, catalytic domain | 422 - 676 | IPR020635 |
domain | Focal adhesion kinase, N-terminal | 35 - 130 | IPR041390 |
domain | FAK1/PYK2, FERM domain C-lobe | 254 - 364 | IPR041784 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.10.2 | Protein-tyrosine kinases |
Subcellular Localization |
|
|
PANTHER Family | PTHR46221 | FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER |
PANTHER Subfamily | PTHR46221:SF8 | NON-SPECIFIC PROTEIN-TYROSINE KINASE |
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
12 GO annotations of cellular component
Name | Definition |
---|---|
cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
11 GO annotations of molecular function
Name | Definition |
---|---|
actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
integrin binding | Binding to an integrin. |
JUN kinase binding | Binding to JUN kinase, an enzyme that catalyzes the phosphorylation and activation of members of the JUN family. |
non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
protein phosphatase binding | Binding to a protein phosphatase. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
SH2 domain binding | Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class. |
signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
50 GO annotations of biological process
Name | Definition |
---|---|
angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
detection of muscle stretch | The series of events by which a muscle stretch stimulus is received by a cell and converted into a molecular signal. |
ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
epidermal growth factor receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
establishment of cell polarity | The specification and formation of anisotropic intracellular organization or cell growth patterns. |
Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
growth hormone receptor signaling pathway | The series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand. |
heart morphogenesis | The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
negative regulation of anoikis | Any process that stops, prevents or reduces the frequency, rate or extent of anoikis. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
negative regulation of cell-cell adhesion | Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. |
netrin-activated signaling pathway | The series of molecular signals initiated by the binding of a netrin protein to its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Netrins can act as chemoattractant signals for some cells and chemorepellent signals for others. Netrins also have roles outside of cell and axon guidance. |
peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
placenta development | The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of fibroblast migration | Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. |
positive regulation of macrophage chemotaxis | Any process that increases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. |
positive regulation of macrophage proliferation | Any process that activates or increases the frequency, rate or extent of macrophage proliferation. |
positive regulation of phosphatidylinositol 3-kinase activity | Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. |
positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
positive regulation of protein kinase activity | Any process that activates or increases the frequency, rate or extent of protein kinase activity. |
positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
positive regulation of ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
regulation of cell adhesion mediated by integrin | Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin. |
regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
regulation of cell shape | Any process that modulates the surface configuration of a cell. |
regulation of cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
regulation of endothelial cell migration | Any process that modulates the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
regulation of epithelial cell migration | Any process that modulates the frequency, rate or extent of epithelial cell migration. |
regulation of focal adhesion assembly | Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of osteoblast differentiation | Any process that modulates the frequency, rate or extent of osteoblast differentiation. |
regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
regulation of substrate adhesion-dependent cell spreading | Any process that modulates the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
signal complex assembly | The aggregation, arrangement and bonding together of a set of components to form a complex capable of relaying a signal within a cell. |
transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
32 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q00944 | PTK2 | Focal adhesion kinase 1 | Gallus gallus (Chicken) | EV |
P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
P43403 | ZAP70 | Tyrosine-protein kinase ZAP-70 | Homo sapiens (Human) | EV |
Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
P41240 | CSK | Tyrosine-protein kinase CSK | Homo sapiens (Human) | SS |
Q14289 | PTK2B | Protein-tyrosine kinase 2-beta | Homo sapiens (Human) | PR |
Q13470 | TNK1 | Non-receptor tyrosine-protein kinase TNK1 | Homo sapiens (Human) | PR |
Q07912 | TNK2 | Activated CDC42 kinase 1 | Homo sapiens (Human) | EV |
P16591 | FER | Tyrosine-protein kinase Fer | Homo sapiens (Human) | PR |
Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
P42684 | ABL2 | Tyrosine-protein kinase ABL2 | Homo sapiens (Human) | SS |
P00519 | ABL1 | Tyrosine-protein kinase ABL1 | Homo sapiens (Human) | EV |
Q9QVP9 | Ptk2b | Protein-tyrosine kinase 2-beta | Mus musculus (Mouse) | PR |
P34152 | Ptk2 | Focal adhesion kinase 1 | Mus musculus (Mouse) | SS |
Q99ML2 | Tnk1 | Non-receptor tyrosine-protein kinase TNK1 | Mus musculus (Mouse) | PR |
P70600 | Ptk2b | Protein-tyrosine kinase 2-beta | Rattus norvegicus (Rat) | PR |
O35346 | Ptk2 | Focal adhesion kinase 1 | Rattus norvegicus (Rat) | SS |
Q95YD4 | kin-32 | Inactive tyrosine-protein kinase kin-32 | Caenorhabditis elegans | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAAAYLDPNL | NHTPNSSTKT | HLGTGMERSP | GAMERVLKVF | HYFESNSEPT | TWASIIRHGD |
70 | 80 | 90 | 100 | 110 | 120 |
ATDVRGIIQK | IVDSHKVKHV | ACYGFRLSHL | RSEEVHWLHV | DMGVSSVREK | YELAHPPEEW |
130 | 140 | 150 | 160 | 170 | 180 |
KYELRIRYLP | KGFLNQFTED | KPTLNFFYQQ | VKSDYMLEIA | DQVDQEIALK | LGCLEIRRSY |
190 | 200 | 210 | 220 | 230 | 240 |
WEMRGNALEK | KSNYEVLEKD | VGLKRFFPKS | LLDSVKAKTL | RKLIQQTFRQ | FANLNREESI |
250 | 260 | 270 | 280 | 290 | 300 |
LKFFEILSPV | YRFDKECFKC | ALGSSWIISV | ELAIGPEEGI | SYLTDKGCNP | THLADFTQVQ |
310 | 320 | 330 | 340 | 350 | 360 |
TIQYSNSEDK | DRKGMLQLKI | AGAPEPLTVT | APSLTIAENM | ADLIDGYCRL | VNGTSQSFII |
370 | 380 | 390 | 400 | 410 | 420 |
RPQKEGERAL | PSIPKLANSE | KQGMRTHAVS | VSETDDYAEI | IDEEDTYTMP | STRDYEIQRE |
430 | 440 | 450 | 460 | 470 | 480 |
RIELGRCIGE | GQFGDVHQGI | YMSPENPALA | VAIKTCKNCT | SDSVREKFLQ | EALTMRQFDH |
490 | 500 | 510 | 520 | 530 | 540 |
PHIVKLIGVI | TENPVWIIME | LCTLGELRSF | LQVRKYSLDL | ASLILYAYQL | STALAYLESK |
550 | 560 | 570 | 580 | 590 | 600 |
RFVHRDIAAR | NVLVSSNDCV | KLGDFGLSRY | MEDSTYYKAS | KGKLPIKWMA | PESINFRRFT |
610 | 620 | 630 | 640 | 650 | 660 |
SASDVWMFGV | CMWEILMHGV | KPFQGVKNND | VIGRIENGER | LPMPPNCPPT | LYSLMTKCWA |
670 | 680 | 690 | 700 | 710 | 720 |
YDPSRRPRFT | ELKAQLSTIL | EEEKAQQEER | MRMESRRQAT | VSWDSGGSDE | APPKPSRPGY |
730 | 740 | 750 | 760 | 770 | 780 |
PSPRSSEGFY | PSPQHMVQTN | HYQVSGYPGS | HGITAMAGSI | YPGQASLLDQ | TDSWNHRPQE |
790 | 800 | 810 | 820 | 830 | 840 |
IAMWQPNVED | STVLDLRGIG | QVLPTHLMEE | RLIRQQQEME | EDQRWLEKEE | RFLKPDVRLS |
850 | 860 | 870 | 880 | 890 | 900 |
RGSIDREDGS | LQGPIGNQHI | YQPVGKPDPA | APPKKPPRPG | APGHLGSLAS | LSSPADSYNE |
910 | 920 | 930 | 940 | 950 | 960 |
GVKLQPQEIS | PPPTANLDRS | NDKVYENVTG | LVKAVIEMSS | KIQPAPPEEY | VPMVKEVGLA |
970 | 980 | 990 | 1000 | 1010 | 1020 |
LRTLLATVDE | TIPLLPASTH | REIEMAQKLL | NSDLGELINK | MKLAQQYVMT | SLQQEYKKQM |
1030 | 1040 | 1050 | |||
LTAAHALAVD | AKNLLDVIDQ | ARLKMLGQTR | PH |